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Results: 1 to 20 of 118

1.

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1808-13. doi: 10.1210/jc.2012-1369. Epub 2012 Jun 20.

PMID:
22723333
[PubMed - indexed for MEDLINE]
2.

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5.

PMID:
23043190
[PubMed - indexed for MEDLINE]
3.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

PMID:
22464250
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM.

Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9. Erratum in: Hum Mutat. 2013 Apr;34(4):667.

PMID:
23033274
[PubMed - indexed for MEDLINE]
5.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH.

Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29.

PMID:
22464252
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Acrodysostosis.

Silve C, Clauser E, Linglart A.

Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Review.

PMID:
22815067
[PubMed - indexed for MEDLINE]
7.

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C.

N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717.

PMID:
21651393
[PubMed - indexed for MEDLINE]
Free Article
8.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura KI, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura KI, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.

Cell Signal. 2014 Jul 24;26(11):2446-2459. doi: 10.1016/j.cellsig.2014.07.025. [Epub ahead of print]

PMID:
25064455
[PubMed - as supplied by publisher]
9.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A.

J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.

PMID:
24203977
[PubMed - indexed for MEDLINE]
10.

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2012 Apr;97(4):E687-93. doi: 10.1210/jc.2011-3000. Epub 2012 Jan 18.

PMID:
22259056
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI, Nesterova M, Stratakis CA.

Eur J Endocrinol. 2009 Jul;161(1):153-61. doi: 10.1530/EJE-09-0027. Epub 2009 May 8.

PMID:
19429701
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D.

Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.

PMID:
23425300
[PubMed - in process]
13.

The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis.

Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W.

Int J Mol Sci. 2014 Jul 29;15(8):13267-74. doi: 10.3390/ijms150813267.

PMID:
25075981
[PubMed - in process]
Free Article
14.

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Robinson-White A, Meoli E, Stergiopoulos S, Horvath A, Boikos S, Bossis I, Stratakis CA.

J Clin Endocrinol Metab. 2006 Jun;91(6):2380-8. Epub 2006 Mar 28.

PMID:
16569736
[PubMed - indexed for MEDLINE]
15.

One single signaling pathway for so many different biological functions: lessons from the cyclic adenosine monophosphate/protein kinase A pathway-related diseases.

Assié G.

J Clin Endocrinol Metab. 2012 Dec;97(12):4355-7. doi: 10.1210/jc.2012-3659. No abstract available.

PMID:
23223481
[PubMed - indexed for MEDLINE]
16.

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA.

Hum Mol Genet. 2003 Jul 1;12(13):1475-84.

PMID:
12812976
[PubMed - indexed for MEDLINE]
Free Article
17.

Acrodysostosis syndromes.

Silve C, Le-Stunff C, Motte E, Gunes Y, Linglart A, Clauser E.

Bonekey Rep. 2012 Nov 21;1:225. doi: 10.1038/bonekey.2012.225. Review.

PMID:
24363928
[PubMed]
Free PMC Article
18.

Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.

Palos-Paz F, Perez-Guerra O, Cameselle-Teijeiro J, Rueda-Chimeno C, Barreiro-Morandeira F, Lado-Abeal J; Galician Group for the Study of Toxic Multinodular Goitre, Araujo Vilar D, Argueso R, Barca O, Botana M, Cabezas-Agrícola JM, Catalina P, Dominguez Gerpe L, Fernandez T, Mato A, Nuño A, Penin M, Victoria B.

Eur J Endocrinol. 2008 Nov;159(5):623-31. doi: 10.1530/EJE-08-0313. Epub 2008 Aug 11.

PMID:
18694911
[PubMed - indexed for MEDLINE]
Free Article
19.

An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.

Nesterova M, Bossis I, Wen F, Horvath A, Matyakhina L, Stratakis CA.

J Clin Endocrinol Metab. 2008 Feb;93(2):565-71. Epub 2007 Dec 4.

PMID:
18056771
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

Cazabat L, Ragazzon B, Groussin L, Bertherat J.

Pituitary. 2006;9(3):211-9. Review.

PMID:
17036196
[PubMed - indexed for MEDLINE]

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